Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000568420 | SCV000667517 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-11-22 | criteria provided, single submitter | clinical testing | The c.4317_4319delTCC variant (also known as p.P1443del) is located in coding exon 15 of the APC gene. This variant results from an in-frame TCC deletion at nucleotide positions 4317 to 4319. This results in the in-frame deletion of a proline at codon 1443. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be neutral by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Invitae | RCV003651995 | SCV001236746 | uncertain significance | Familial adenomatous polyposis 1 | 2023-08-30 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 482318). This variant has not been reported in the literature in individuals affected with APC-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant, c.4317_4319del, results in the deletion of 1 amino acid(s) of the APC protein (p.Pro1443del), but otherwise preserves the integrity of the reading frame. |
| Color Diagnostics, |
RCV000568420 | SCV001342182 | uncertain significance | Hereditary cancer-predisposing syndrome | 2020-12-08 | criteria provided, single submitter | clinical testing | This variant causes an in-frame deletion of 1 amino acid of the APC protein. To our knowledge, functional studies have not been performed for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has been identified in 1/251052 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. |
| Baylor Genetics | RCV002528048 | SCV004207824 | uncertain significance | Familial adenomatous polyposis 1 | 2023-05-31 | criteria provided, single submitter | clinical testing |